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• Clinical Article •
MRI features and clinical correlation analysis of thigh muscle in children with spinal muscular atrophy
SHENG Sisi  SHAO Jianbo  PENG Xuehua  GUO Yu  DENG Xiaolong  SUN Dan 

Cite this article as: SHENG S S, SHAO J B, PENG X H, et al. MRI features and clinical correlation analysis of thigh muscle in children with spinal muscular atrophy[J]. Chin J Magn Reson Imaging, 2024, 15(9): 114-119. DOI:10.12015/issn.1674-8034.2024.09.019.


[Abstract] Objective To analyze the imaging features and clinical application value of MRI of thigh muscles in children with spinal muscular atrophy (SMA). Material and Methods: A total of 37 children with SMA (5 patients with type Ⅰ, 21 patients with type Ⅱ, 11 patients with type Ⅲ) who were genetically diagnosed and underwent MRI examination in Wuhan Children's Hospital Affiliated to Tongji Medical College Huazhong University of Science and Technology from January 2022 to August 2022 were selected as the study objects. The MRI manifestations and clinical data of thigh muscles in children with different clinical types of SMA were retrospectively analyzed. The degree of muscle fat infiltration in the right thigh was evaluated semi-quantitatively by modified Mercuri grading and Spearman correlation analysis. Total fat infiltration score was compared with Hammersmith Functional Motor Scale Expanded (HFMSE) score, disease duration and survival motor neuron 2 (SMN2) gene copy number correlation analysis.Results The children with SMA showed the morphological changes of bilateral thigh muscles, and there were dots, strips and (or) flaky fat signal shadows in and around the muscles, resulting in "network" and (or) "island" shape of muscles. Type Ⅰ SMA is mainly associated with muscle atrophy, type Ⅱ SMA is associated with muscle hypertrophy, and type Ⅲ SMA is mainly associated with fat infiltration. Mercuri fat infiltration score showed that quadriceps femoris (musculus rectus, musculus lateralis, musculus intermedius and musculus medius), sartorius, adductor magnus and musculus gracilis were more heavily involved, among which sartorius had the highest Mercuri score, while the adductor longus, musculus biceps femoris longus, musculus semitendinosus and musculus semimemmembranus were less involved. The Mercuri score of the adductor longus was the lowest, and significantly lower than that of other muscles. The degree of muscle fat infiltration in children with type Ⅲ SMA was negatively correlated with the motor function score of HFMSE (r=-0.917, P<0.001), and the degree of muscle fat infiltration was positively correlated with the course of disease in all children with SMA (r=0.772, P<0.001).Conclusions The conventional MRI findings of children with SMA are mainly muscle atrophy and fat infiltration, and the fat infiltration is progressive, and the muscle involvement pattern and severity of children with SMA are different in different clinical phenotypes. In addition, SMA muscle involvement is selective, with relative muscle retention patterns. MRI can visually assess muscle involvement in children with SMA and has a good correlation with clinical indicators, which is a potential biomarker.
[Keywords] spinal muscular atrophy；fat infiltration；muscle atrophy；children；magnetic resonance imaging

SHENG Sisi1   SHAO Jianbo1*   PENG Xuehua1   GUO Yu1   DENG Xiaolong2   SUN Dan2  

1 Department of Radiology, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science & Technology, Wuhan Clinical Research Center for Children's Medical Imaging, Wuhan 430014, China

2 Department of Neurology, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science & Technology, Wuhan 430014, China

Corresponding author: SHAO J B, E-mail: wchmri@163.com

Conflicts of interest   None.

Received  2024-03-11
Accepted  2024-07-09
DOI: 10.12015/issn.1674-8034.2024.09.019
Cite this article as: SHENG S S, SHAO J B, PENG X H, et al. MRI features and clinical correlation analysis of thigh muscle in children with spinal muscular atrophy[J]. Chin J Magn Reson Imaging, 2024, 15(9): 114-119. DOI:10.12015/issn.1674-8034.2024.09.019.

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